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Ehlers-Danlos Syndrome, Kyphoscoliotic Form.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Feb 2 [updated 2013 Jan 24].

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Department of Dermatology, Duke University Medical Center, Durham, North Carolina
Division of Metabolism, Connective Tissue Unit, University Children's Hospital, Zurich, Switzerland



Ehlers-Danlos syndrome (EDS), kyphoscoliotic form (previously known as EDS VI) is a generalized connective tissue disorder characterized by friable, hyperextensible skin, thin scars, and easy bruising; generalized joint laxity; severe muscular hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility with increased risk of rupture of the globe. Intelligence is normal; life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries and respiratory compromise if kyphoscoliosis is severe.


EDS, kyphoscoliotic form is caused by deficient activity of the enzyme procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1, or lysyl hydroxylase 1). The diagnosis of EDS, kyphoscoliotic form relies on the demonstration of a markedly increased ratio of deoxypyridinoline to pyridinoline crosslinks in urine measured by high-performance liquid chromatography (HPLC) (a highly sensitive, specific, and inexpensive test) and/or assay of lysyl hydroxylase enzyme activity in skin fibroblasts. PLOD1 is the only gene in which pathogenic variants are known to cause EDS, kyphoscoliotic form.


Treatment of manifestations: Management of kyphoscoliosis by an orthopedic surgeon, including surgery as needed; physical therapy to strengthen large muscle groups; bracing to support unstable joints; protective pads and helmets during active sports; control of blood pressure to reduce the risk for arterial rupture; treatment with beta blockers as needed to prevent aortic dilation. Prevention of secondary complications: Standard American Heart Association guidelines for antimicrobial prophylaxis for mitral valve prolapse. Surveillance: Routine ophthalmologic examination; routine examination for inguinal hernia; regular follow-up by an orthopedic surgeon; echocardiogram at five-year intervals even if the initial echocardiogram is normal. Agents/circumstances to avoid: Sports that impact the joints, such as gymnastics or long-distance running. Pregnancy management: Affected pregnant women may be at increased risk for spontaneous abortions, premature rupture of membranes, and rupture of arteries.


EDS, kyphoscoliotic form is inherited in an autosomal recessive manner. At conception, each sib of a proband with EDS, kyphoscoliotic form has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal testing for pregnancies at increased risk is possible once the pathogenic variants have been identified in the family.

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